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NM_004817.4(TJP2):c.2992-8C>T

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Sep 23, 2021)
Last evaluated:
Dec 31, 2019
Accession:
VCV000045109.6
Variation ID:
45109
Description:
single nucleotide variant
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NM_004817.4(TJP2):c.2992-8C>T

Allele ID
54276
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q21.11
Genomic location
9: 69251027 (GRCh38) GRCh38 UCSC
9: 71865943 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_1201:g.155121C>T
LRG_1201t1:c.2992-8C>T
NC_000009.11:g.71865943C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000009.12:69251026:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00319 (T)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00130
The Genome Aggregation Database (gnomAD) 0.00325
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00338
The Genome Aggregation Database (gnomAD), exomes 0.00127
Trans-Omics for Precision Medicine (TOPMed) 0.00309
1000 Genomes Project 0.00319
The Genome Aggregation Database (gnomAD) 0.00327
Trans-Omics for Precision Medicine (TOPMed) 0.00314
Links
ClinGen: CA135543
dbSNP: rs143965233
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Jun 18, 2015 RCV000038251.6
Benign 4 criteria provided, multiple submitters, no conflicts Dec 31, 2019 RCV000909451.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TJP2 - - GRCh38
GRCh37
426 482

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jun 18, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000332339.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
http://www.ncbi.nlm.nih.gov/vari…
Benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001054257.2
Submitted: (Jan 29, 2020)
Evidence details
Likely benign
(Feb 07, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000061919.6
Submitted: (Mar 21, 2019)
Evidence details
Comment:
2992-8C>T in intron 20A of TJP2: This variant is not expected to have clinical s ignificance because it has been identified in 0.7% (29/4406) of … (more)
Benign
(Dec 06, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000722164.2
Submitted: (Sep 23, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Genome Diagnostics Laboratory, University Medical Center Utrecht
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001926302.1
Submitted: (Sep 23, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001975295.1
Submitted: (Sep 21, 2021)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Text-mined citations for rs143965233...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021